Research

Research Interests

Genetic eye disease is a leading cause of blindness among infants, children and adults.

Professor Mariya Moosajee is focused on:

Understanding the molecular basis of inherited eye disorders, in particular the genetics of retinal dystrophies and ocular maldevelopment such a microphthalmia, anophthalmia, ocular coloboma and anterior segment dysgenesis.

Establishing the genotype-phenotype relationship through clinical deep phenotyping studies to identify optimal therapeutic windows and outcome measures for clinical trials, patient risk stratification as significant rates of systemic disease association to ensure the appropriate multidisciplinary clinical pathways for best patient care.

Development of novel therapeutic approaches for genetic eye disease including nonsense suppression therapy (ataluren, PTC-derivatives, NB compounds and amlexanox) anti-apoptotic agents, and gene therapy using non-viral gene delivery systems including scaffold matrix attachment region (S/MAR) vectors.

Prof Moosajee has won over 30 international and national prizes and awards for her research and was the first ophthalmologist in the UK to receive the prestigious Wellcome Trust Clinical Research Development Fellowship, for which she was also awarded the Beit Prize for the best fellowship by the Wellcome Trust.

For her scientific publications visit: Pubmed.

Developing the use of small molecule drugs to treat nonsense-mediated genetic eye disease

Proof-of-concept studies testing the safety and efficacy of novel small molecule drugs, such as ataluren and designer aminoglycosides, on (i) in vivo models of genetic eye disease including ocular coloboma, microphthalmia, choroideremia, Lebers congenital amaurosis and retinitis pigmentosa; and (ii) in vitro patient cells including skin fibroblasts and induced pluripotent stem cell (iPSC) derived retinal pigment epithelium, photoreceptors and optic cups with the same ocular disease.

A molecular therapy that safely targets nonsense mutations has the potential to treat sight-threatening genetic eye disorders in a disease- and gene-independent approach. This will have far-reaching effects across Ophthalmology as most genetic eye diseases have no treatment available.

My Articles

Investigating the genetics of congenital eye disorders and inherited retinal disease

Using the latest next generation sequencing technology, including whole exome and whole genome sequencing with extensive bioinformatics, we are identifying the genetic causes of eye disease. Once the genetic cause is established, we use various models such as the induced pluripotent stem cell (iPSC) derived retinal pigment epithelium, photoreceptors and optic cups, to dissect the molecular basis and understand the disease mechanisms in order to develop new therapeutic approaches for treating these conditions. Please watch the video below to see how we can grow an early eye in a petri dish from a patient’s skin cells.

Seeing with your skin from NIHR Moorfields BRC on Vimeo.

My Articles

Natural history studies to understand disease progression, identify the optimal therapeutic window and determine reliable outcome measures for clinical trials

At Moorfields Eye Hospital we have a state-of-the-art Clinical Research facility with high-tech imaging equipment that enables us to study the detailed clinical features of eye disease and monitor the progression. We are making advances in our understanding of the relationship between the genetic diagnosis and the clinical presentation, and discovering biomarkers using whole metabolome testing. This allows us to screen all the metabolites in an individual’s blood so we can use them as markers for response to drug treatments in clinical trials.

My Articles

Professor Mariya Moosajee’s Lab

Current

Dr Maria Toms, Research Associate
Dr Nick Owens, Research Associate
Dr Dulce Lima Cunha, Research Associate
Dr Cecile Mejecase, Research Associate
Dr Vivienne Kit, Clinical Research Fellow
Dr Suzannah Bell, Clinical Research Fellow
Dr Alex Yeong, Clinical Research Fellow
Ms Natasha Ward, Research Assistant

PhD Students

Maria Toms, completed 2018
Phillippa Harding
Jonathan Eintracht
Hajrah Sarkar
Lyes Toualbi

Alumni

Ms Constance Maurer, Research Assistant
Dr Ahmed Hagag, Clinical Research Fellow
Ms Dhani Tracey-White, Research Assistant
Dr Rodrigo Young, Research Associate
Dr Andreas Mitsios, Clinical Research Fellow
Dr Rose Richardson, Research Associate
Dr Matthew Smart, Research Associate
Dr Alessandro Abbouda, Clinical Research Fellow
https://www.crick.ac.uk/research/labs/mariya-moosajee
Dr Andreas Mitsios, Clinical Research Fellow

Prizes achieved from members of Professor Mariya Moosajee’s Research Group